1. Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations 
Liang Jin, Qiujie Jiang, Zhengsheng Wu, Changxia Shao, Yong Zhou, Luting Yang, Jouni Uitto, Gang Wang 
Journal of Investigative Dermatology 
Volume 135, Issue 5, Pages (May 2015)
DOI: /jid
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2. Figure 1
The positions of ABCC6 mutations identified in Chinese patients with pseudoxanthoma elasticum. (a) Intron-exon organization of the ABCC6 gene. Vertical boxes represent the 31 exons; missense mutations are shown above, and insertion or deletion mutations resulting in premature termination codon below the line; green exons code for the two nucleotide-binding fold domains of the protein; black, previously reported mutations; red, to our knowledge previously unreported mutations. (b) Positions of the missense variants in the membrane topology model of the ABCC6 protein. The various protein domains are delineated by horizontal arrows above; the positions of amino-acid variants investigated in the study are in red; nucleotide-binding fold domains and intracellular loops are colored with gray and blue, respectively. *Denotes the presence of the mutation in multiple alleles/patients with the number of affected alleles in parenthesis.
Journal of Investigative Dermatology  , DOI: ( /jid )
Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

3. Figure 2
Subcellular localization of human ABCC6 missense variants expressed in the mouse liver, and the effect of 4-phenylbutyrate (4-PBA) on their localization. (a) The human (red) and mouse (green) ABCC6 proteins were detected on frozen sections of the mouse liver by immunofluorescence with species-specific primary antibodies 3 days after hydrodynamic tail-vein injection of each ABCC6 missense variant in an expression vector. (b) Mice injected with ABCC6 missense variants were treated with (right panels) or without (left panels) 4-PBA. Scale bar=100mm.
Journal of Investigative Dermatology  , DOI: ( /jid )
Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

4. Figure 3
Morphology of zebrafish 4 days after co-injection of an abcc6a knockdown morpholino together with different human ABCC6 mRNA variants. The morpholino-induced phenotype consisting of pericardiac edema, stunted growth, and curled tail, similar to zebrafish injected with morpholino (MO) alone, was observed in zebrafish co-injected with human ABCC6 mRNA carrying p.R1141X, p.P4H, p.A9E, p.P21S, p.R419Q, p.E125K, p.E709G, or p.L948P mutation, indicating lack of rescue and implying pathogenicity. Zebrafish co-injected with MO and ABCC6 mRNA carrying the R64Q mutation showed a wild-type phenotype, similar to fish injected with MO together with human wild-type (WT) ABCC6 mRNA.
Journal of Investigative Dermatology  , DOI: ( /jid )
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5. Figure 4
Cutaneous presentation, histopathology, and mutation detection in a pediatric patient with pseudoxanthoma elasticum. (a) Hyperpigmentation on the trunk (left) and yellowish papules in the axillary fossa (upper right); aberrant calcification in the dermis detected by von Kossa stain (bottom right); (b) a heterozygous mutation, p.S479F, in the ENPP1 gene revealed by mutation analysis (arrow); (c) conservation of the serine-479 during evolution from zebrafish to human (outlined). Scale bar=100mm. WT, wild type.
Journal of Investigative Dermatology  , DOI: ( /jid )
Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions